| 1 | PBD3, PEX5
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| Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.
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| Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR.
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| Hum Mutat 30(1):93-8.
2009
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| 2 | PBD1, PBD3, PBD5, PBD6, PBD8, PBD9
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| Peroxisomal disorders: The single peroxisomal enzyme deficiencies.
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| Wanders RJ, Waterham HR.
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| Biochim Biophys Acta [Epub ahead of print] 2006
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| 3 | PBD1, PBD2, PBD3, PBD4, PBD5, PBD6, PBD7, PBD8, PBD9, PBD10
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| Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders.
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| Wanders RJ, Waterham HR.
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| Clin Genet 67(2):107-33. Review. 2005
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| 4 | PEX, PBD3, IRD7
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| PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders.
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| Crane DI, Maxwell MA, Paton BC.
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| Hum Mutat 26(3):167-75. Review. 2005
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| 5 | PEX1, PBD3
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| PEX1 deficiency presenting as Leber congenital amaurosis.
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| Michelakakis HM, Zafeiriou DI, Moraitou MS, Gootjes J, Wanders RJ.
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| Pediatr Neurol 31(2):146-9. 2004
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| 6 | PBD1, PBD2, PBD3, PBD4, PBD5, PBD6, PBD8, PBD9, PBD10
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| Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.
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| Poll-The BT, Gootjes J, Duran M, De Klerk JB, Wenniger-Prick LJ, Admiraal RJ, Waterham HR, Wanders RJ, Barth PG.
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| Am J Med Genet A 126(4):333-8. 2004
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| 7 | PBD3, PEX1, ZWS1
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| Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients.
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| Maxwell MA, Allen T, Solly PB, Svingen T, Paton BC, Crane DI.
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| Hum Mutat 20(5):342-51. 2002
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| 8 | PEX1, PBD3, ZWS1
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| Identification of a common PEX1 mutation in Zellweger syndrome.
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| Collins CS, et al.
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| Hum Mutat 14(1):45-53. 1999
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| 9 | PEX1, PBD3, ZWS1
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| A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype.
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| Maxwell MA, et al.
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| Hum Genet 105(1-2):38-44. 1999
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| 10 | ABCD4, PBD1, PBD2, PBD3, PBD4, PBD5, PEX1, PEX13, PEX6, PEX7, PEX19, PXMP3, PEX5, RCDP1, ZWS1, ZWS2, ZWS3, IRD7, IRD8, PBD12
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| Genotype-Phenotype Correlations in Disorders of Peroxisome Biogenesis.
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| Moser HW.
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| Mol Genet Metab 68(2):316-327 1999
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| 11 | PBD3, PEX1, ZWS1
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| Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
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| Tamura S, et al.
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| Proc Natl Acad Sci U S A 95 : 4350-4355. 1998
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| 12 | PBD3, PEX1, ZWS1
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| Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.
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| Portsteffen H, Beyer A, Becker E, Epplen C, Pawlak A, Kunau WH, Dodt G.
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| Nat Genet 17(4):449-52. 1997
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| 13 | PBD3, PEX1, ZWS1
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| Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
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| Reuber BE, Germain-Lee E, Collins CS, Morrell JC, Ameritunga R, Moser HW, Valle D, Gould SJ.
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| Nat Genet 17(4):445-8. 1997
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| 14 | PBD3, ZWS2, ZWS5
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| Zellweger syndrome and associated phenotypes.
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| FitzPatrick DR.
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| J Med Genet 33 : 863-868. 1996
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| 15 | PBD3
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| Gene assignment of Zellweger syndrome to 7q11.23 : report of the second case associated with a pericentric inversion of chromosome 7.
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| Naritomi K, et al.
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| Hum Genet 84 : 79-80. 1989
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| 16 | PBD3
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| Zellweger syndrome and microdeletion of the proximal long arm of chromosome 7.
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| Naritomi K, Hyakuna N, Suzuki Y, Orii T, Hirayama K.
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| Hum Genet 80 : 201-202. 1988
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